Canonical Allele Identifier: CA5546072

Gene: CDH23

Linked Data

• ClinVar Variation Id: 797561
• ClinVar RCV Id: RCV000981030
• dbSNP Id: rs751398741
• ExAC: 10:73553102 C / T
• gnomAD v2: 10-73553102-C-T
• gnomAD v4: 10-71793345-C-T
• MyVariant Identifiers: chr10:g.73553102C>T (hg19) ; chr10:g.71793345C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71793345C>T , CM000672.2:g.71793345C>T	GRCh38
NC_000010.10:g.73553102C>T , CM000672.1:g.73553102C>T	GRCh37
NC_000010.9:g.73223108C>T	NCBI36
NG_008835.1:g.401399C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000224721.12:c.6417C>T MANE Select	ENSP00000224721.9:p.Ser2139=
ENST00000224721.10:c.6432C>T	ENSP00000224721.8:p.Ser2144=
ENST00000622827.4:c.6417C>T	ENSP00000483211.1:p.Ser2139=
NM_022124.5:c.6417C>T	NP_071407.4:p.Ser2139=
XM_006717940.2:c.6612C>T	XP_006718003.1:p.Ser2204=
XM_006717942.2:c.6546C>T	XP_006718005.1:p.Ser2182=
XM_011540039.1:c.6609C>T	XP_011538341.1:p.Ser2203=
XM_011540040.1:c.6606C>T	XP_011538342.1:p.Ser2202=
XM_011540041.1:c.6552C>T	XP_011538343.1:p.Ser2184=
XM_011540042.1:c.6577+35C>T	XP_011538344.1:n.6577+35C>T
XM_011540043.1:c.6612C>T	XP_011538345.1:p.Ser2204=
XM_011540044.1:c.6477C>T	XP_011538346.1:p.Ser2159=
XM_011540045.1:c.6612C>T	XP_011538347.1:p.Ser2204=
XM_011540046.1:c.6072C>T	XP_011538348.1:p.Ser2024=
XM_011540047.1:c.5430C>T	XP_011538349.1:p.Ser1810=
XM_011540048.1:c.6612C>T	XP_011538350.1:p.Ser2204=
XM_011540049.1:c.6612C>T	XP_011538351.1:p.Ser2204=
XM_011540050.1:c.6612C>T	XP_011538352.1:p.Ser2204=
XM_011540051.1:c.6612C>T	XP_011538353.1:p.Ser2204=
XM_011540052.1:c.2940C>T	XP_011538354.1:p.Ser980=
XR_945796.1:n.6855C>T
NM_022124.6:c.6417C>T MANE Select	NP_071407.4:p.Ser2139=